Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Gema Garrido"'
Autor:
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J. del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio del Castillo
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small ( 90 dB SPL) that correlates with specific structural abnormalities in the cochlea. We show that Gjb2 e
Externí odkaz:
https://doaj.org/article/005dfd86e59541f7888dab03f10a4e7b
Autor:
Inês Vaz-Pinto, Enrique Ortega, Ivan Chivite, María Butí, Juan Turnes-Vázquez, Vítor Magno-Pereira, Miguel Rocha, Jorge Garrido, Catarina Esteves-Santos, Mafalda Guimaraes, Tomás Mourão, María Martínez Roma, Vanessa Guilera, Jordi Llaneras-Artigues, Ana Barreira-Díaz, Santiago Pérez Cachafeiro, Sandra Daponte Angueira, Elisa Xavier, Mariana Vicente, Gema Garrido, Maria Teresa Heredia, Diogo Medina, Miguel García Deltoro
Publikováno v:
Frontiers in Public Health, Vol 11 (2024)
BackgroundAround 57,000 people in Spain and Portugal currently living with HIV or chronic hepatitis C are unaware of their infection. The COVID-19 pandemic severely disrupted screening efforts for these infections. We designed an intervention to incr
Externí odkaz:
https://doaj.org/article/b90f8cccb48145078da1938120921a12
Autor:
Marta Gandía, Francisco J. del Castillo, Francisco J. Rodríguez-Álvarez, Gema Garrido, Manuela Villamar, Manuela Calderón, Miguel A. Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo
Publikováno v:
PLoS ONE, Vol 9, Iss 1 (2014)
Externí odkaz:
https://doaj.org/article/b192938e656f4c81a605022667bc2efa
Autor:
Marta Gandía, Francisco J Del Castillo, Francisco J Rodríguez-Álvarez, Gema Garrido, Manuela Villamar, Manuela Calderón, Miguel A Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e73566 (2013)
The DFNB1 subtype of autosomal recessive, nonsyndromic hearing impairment, caused by mutations affecting the GJB2 (connexin-26) [corrected] gene, is highly prevalent in most populations worldwide. DFNB1 hearing impairment is mostly severe or profound
Externí odkaz:
https://doaj.org/article/c42e1905cbc244e5a2a04a3e4aa2fece
Akademický článek
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Autor:
Rodríguez-Rabadán Díaz-Cano, Miguel Ángel, Miguel-Naranjo, Pedro, García Huerta, Madel Rosario, Resino, Gema Garrido, de la Laguna, Antonio José Gómez, Chapon, Linda, Taravillo, Cristina Cabrera
Publikováno v:
Complutum; 2024, Vol. 35 Issue 1, p35-61, 27p
Autor:
Kwong Wai Choy, Gema Garrido, Rebecca K. Siegert, Yoel Hirsch, Andrew R. Grant, Yu Lu, Alecia Willis, Hatice Duzkale, Lisa Schimmenti, Xue Zhong Liu, Krista Moyer, Hela Azaiez, Rebecca Mar-Heyming, Richard Smith, Narasimhan Nagan, Christine Lo, Xinhua Hu, Ahmad N. Abou Tayoun, Hyunseok Kang, Sarah E. Hemphill, Cynthia C. Morton, Yan Zhang, Yen-Fu Cheng, Huijun Yuan, Kevin T. Booth, Anne Giersch, Moshe Frydman, Tatsuo Matsunaga, Jun Shen, John H. Greinwald, Tzvi Weiden, Saurav Guha, Ye Cao, Hideki Mutai, Yukun Zeng, Arti Pandya, John J. Alexander, Lina Basel-Salmon, Marina T. DiStefano, Margaret A. Kenna, Zippora Brownstein, Ignacio del Castillo, Kejian Zhang, Bella Davidov, Sami S. Amr, Minjie Luo, Karen B. Avraham, Andrea M. Oza, Mustafa Tekin, Miguel A. Moreno-Pelayo, Heidi L. Rehm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and c.109G>A/p.Val37Ile in GJB2 are controversial. Therefore, an expert consensus is required f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a370c81d0cb17c49455b0a172f802944
https://doi.org/10.1038/s41436-019-0535-9
https://doi.org/10.1038/s41436-019-0535-9
Autor:
Ana Guardia, Tamio Suzuki, Lluis Montoliu, Almudena Fernández, Masahiro Hayashi, Gema Garrido, Andrea Montero
Publikováno v:
Pigment cellmelanoma researchREFERENCES. 34(4)
Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non-syndromic and synd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d25f01d8ed373e337a85de716d3c6772
https://pubmed.ncbi.nlm.nih.gov/33960688
https://pubmed.ncbi.nlm.nih.gov/33960688
Publikováno v:
Pigment cellmelanoma researchREFERENCES. 34(1)
Albinism is a rare genetic condition associated with profound visual alterations and a variable hypopigmentation phenotype. The impairment of the visual system includes diagnostic foveal hypoplasia along with misrouting of retinal axons at the optic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fcf2d749c8bfa45fe6d8adcad411662
https://pubmed.ncbi.nlm.nih.gov/33100333
https://pubmed.ncbi.nlm.nih.gov/33100333
Autor:
Gema Garrido, Ignacio del Castillo, M A Moreno-Pelayo, Felipe Moreno, Manuela Calderón, Manuela Villamar, Francisco J. del Castillo, Francisco J. Rodríguez-Álvarez, Marta Gandía
Publikováno v:
PLoS ONE, Vol 9, Iss 1 (2014)
PLoS ONE
PLoS ONE
Several errors were introduced in the preparation of this article for publication. The word "connexin" has been incorrectly substituted by "connection" throughout the article.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afbc6c1845d34e5317f97bc7efc4a9d8
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882183/?tool=EBI
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882183/?tool=EBI